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72 Possible Causes for Cognitive Developmental Delay, Hypertrichosis of Eyebrows

  • Alpha-Mannosidosis

    Physical findings: Cognitive and motor developmental delay, or intellectual disability; hepatosplenomegaly (enlargement of the liver and spleen), large head, protruding forehead[secure.ssa.gov]

  • Autosomal Recessive Mental Retardation Type 5

    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006 ; 140 : 2063 – 2074. 3.[cambridge.org] Maternal depression during pregnancy and postpartum has been shown to be associated with developmental delay in children at 18 months of age. [18] Children of mothers who[emedicine.medscape.com] Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 2010 ; 11 : 161 – 187. 2. Rauch, A, Hoyer, J, Guth, S et al.[cambridge.org]

  • Early Infantile Epileptic Encephalopathy Type 23
  • Microphthalmia Type Lenz

    Dental examinations and cleaning should be instituted to monitor dental hygiene, especially when the affected individual has cognitive developmental delay.[ncbi.nlm.nih.gov] Institute regular dental examinations and cleaning should be instituted, especially when cognitive developmental delay is present; dental treatment as for the general population[ncbi.nlm.nih.gov] Approximately 22/35 of affected males have mild-to-severe intellectual disability or developmental delay [ Ng et al 2002 ]. Motor development may be delayed.[ncbi.nlm.nih.gov]

  • Wiedemann-Steiner Syndrome

    delay of the reported patients.[emedicine.medscape.com] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

  • Rubinstein-Taybi Syndrome

    Patients exhibit growth retardation, psychomotor developmental delay and cognitive disability.[genedx.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[ncbi.nlm.nih.gov]

  • Marshall-Smith Syndrome

    Descriptors: Mental Retardation, Autism, Developmental Delays, Communication Skills, Motor Development, Genetic Disorders, Child Behavior, Cognitive Development, Child Development[eric.ed.gov] Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face[ncbi.nlm.nih.gov] Longitudinal studies One of the cardinal features of Sotos syndrome is developmental delay and children with the syndrome may follow a distinct developmental trajectory.[journals.plos.org]

  • Verheij Syndrome

    Comparison of our patients with the six previously published for whom data are available ( Table 1 ) suggests that short stature, relative microcephaly and developmental/cognitive[nature.com] Visage in profile demonstrates absence of nasofrontal angle, eyebrow hypertrichosis, upturned nasal tip, and shortened upper lip with a pronounced cupid's bow.[emedicine.medscape.com] delay are consistent findings.[nature.com]

  • Sick Sinus Syndrome

    Diagnostic criteria were proposed in 2012 noting that most affected individuals have short fifth fingers with absent or underdeveloped nails, developmental and/or cognitive[rarediseases.org] Additional features may include thick eyebrows, long eyelashes, and generalized excessive hair growth (hypertrichosis) with the exception of the scalp hair, which tends to[rarediseases.org] delays, and facial features such as a wide mouth and broad nose.[rarediseases.org]

  • Fitzsimmons-Guilbert Syndrome

    He has moderate cognitive handicap and pervasive developmental delay.[ncbi.nlm.nih.gov] A down sloping V-shaped configuration of the eyebrows as they met and extended onto the upper part of the nasal bridge is common. Brow hypertrichosis may be observed.[entokey.com] Developmental milestones, if attained, soon regress accompanied by distal amyotrophy, cognitive impairment that may be severe, ataxia, spastic tetraplegia, dysarthria, and[disorders.eyes.arizona.edu]

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